A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum

Authors

  • J.W. Yun,

    1. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea
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  • K.I. Jo,

    1. Department of Laboratory Medicine, Soonchunhyang University College of Medicine, Soonchunhyang University Bucheon Hospital, Bucheon, Republic of Korea
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  • H.I. Woo,

    1. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea
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  • S.-Y. Lee,

    1. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea
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  • C.-S. Ki,

    1. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea
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  • J.-W. Kim,

    1. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea
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  • J. Song,

    1. Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongam, Republic of Korea
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  • D.H. Lee,

    1. Department of Pediatrics, Soonchunhyang University College of Medicine, Soonchunhyang University Hospital, Seoul, Republic of Korea
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  • Y.-W. Lee,

    Corresponding author
    1. Department of Laboratory Medicine, Soonchunhyang University College of Medicine, Soonchunhyang University Bucheon Hospital, Bucheon, Republic of Korea
    • Correspondence:

      Hyung-Doo Park, MD, PhD

      Department of Laboratory Medicine and Genetics

      Samsung Medical Center

      Sungkyunkwan University School of Medicine

      81 Irwon-ro, Gangnam-gu

      Seoul 135-710

      Republic of Korea

      Tel.: +82 2 3410 0290

      fax: +82 2 3410 2719

      e-mail: nayadoo@hanmail.net

      and

      Yong-Wha Lee, MD, PhD

      Department of Laboratory Medicine and Genetics

      Soonchunhyang University College of Medicine

      Soonchunhyang University Bucheon Hospital

      170 Jomaru-ro, Wonmi-gu

      Bucheon 420–767

      Republic of Korea

      Tel: +82 32 621 5943

      fax: +82 32 621 5944

      e-mail: lywmd@schmc.ac.kr

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  • H.-D. Park

    Corresponding author
    1. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea
    • Correspondence:

      Hyung-Doo Park, MD, PhD

      Department of Laboratory Medicine and Genetics

      Samsung Medical Center

      Sungkyunkwan University School of Medicine

      81 Irwon-ro, Gangnam-gu

      Seoul 135-710

      Republic of Korea

      Tel.: +82 2 3410 0290

      fax: +82 2 3410 2719

      e-mail: nayadoo@hanmail.net

      and

      Yong-Wha Lee, MD, PhD

      Department of Laboratory Medicine and Genetics

      Soonchunhyang University College of Medicine

      Soonchunhyang University Bucheon Hospital

      170 Jomaru-ro, Wonmi-gu

      Bucheon 420–767

      Republic of Korea

      Tel: +82 32 621 5943

      fax: +82 32 621 5944

      e-mail: lywmd@schmc.ac.kr

    Search for more papers by this author

No abstract is available for this article.

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